Increased Incidence of Extrathyroidal Congenital Malformations in Japanese Patients with Congenital Hypothyroidism and Their Relationship with Down Syndrome and Other Factors

Thyroid ◽  
2009 ◽  
Vol 19 (8) ◽  
pp. 869-879 ◽  
Author(s):  
Yan-Hong Gu ◽  
Shohei Harada ◽  
Tadaaki Kato ◽  
Hiroaki Inomata ◽  
Kikumaro Aoki ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Congenital Hypothyroidism ◽  
Congenital Malformations ◽  
Japanese Patients

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism

2020 ◽  
Vol 33 (6) ◽  
pp. 691-701 ◽  
Author(s):  
Tatsushi Tanaka ◽  
Kohei Aoyama ◽  
Atsushi Suzuki ◽  
Shinji Saitoh ◽  
Haruo Mizuno
Keyword(s):  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
Thyroid Stimulating Hormone ◽  
Allelic Variant ◽  
Genetic Investigation ◽  
Pathogenic Variants ◽  
Recessive Genes ◽  
Molecular Genetic Diagnosis

AbstractObjectivesCongenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients. This study aimed to perform clinical and genetic investigation in Japanese CH patients to uncover genotype-phenotype correlations.MethodsWe enrolled 136 Japanese patients with transient or permanent CH between April 2015 and March 2017, and performed next-generation sequencing of 19 genes implicated in CH.ResultsWe identified potentially pathogenic bi-allelic variants in DUOX2, TSHR, and TPO in 19, 5, and 1 patient, respectively (autosomal recessive), and a potentially pathogenic mono-allelic variant in NKX2-1 (autosomal dominant) in 1 patient. Molecular genetic diagnosis was highly suggested in 26 patients (19%) from 23 families. We also detected a potentially pathogenic mono-allelic variant in five recessive genes (DUOX2, TSHR, TG, DUOXA2, and TPO) in 31 unrelated patients (23%), although the pathogenicity of these variants remains inconclusive. Patients with bi-allelic DUOX2 variants showed a more severe clinical presentation in infancy than those with bi-allelic TSHR variants. However, this trend reversed beyond infancy. There were no statistical differences in initial thyroid stimulating hormone, free thyroxine, thyroglobulin, and levothyroxine dose as of March 2017 between patients with bi-allelic and mono-allelic DUOX2 variants.ConclusionsThe prevalence of potentially-pathogenic variants in Japanese CH patients was similar to that found by previous reports. Our study demonstrates a genotype-phenotype correlation in Japanese CH patients.

Incidence of congenital malformations in congenital hypothyroidism

Screening ◽  
1994 ◽  
Vol 3 (3) ◽  
pp. 125-130 ◽  
Author(s):  
A. Cassio ◽  
L. Tatò ◽  
C. Colli ◽  
E. Spolettini ◽  
E. Costantini ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Congenital Malformations

scholarly journals Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty

2016 ◽  
Vol 174 (4) ◽  
pp. 453-463 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Keisuke Nagasaki ◽  
Katsuyuki Matsui ◽  
Yu Mimura ◽  
Asami Mori ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Direct Sequencing ◽  
Japanese Patients ◽  
Psychomotor Development ◽  
Thyroid Peroxidase ◽  
Maturation Factor ◽  
Dual Oxidase ◽  
Novel Alleles ◽  
Biallelic Mutations

AimWe previously reported that biallelic mutations in dual oxidase 2 (DUOX2) cause transient hypothyroidism. Since then, many cases with DUOX2 mutations have been reported. However, the clinical features and prognosis of individuals with DUOX2 defects have not been clarified.ObjectiveWe investigated the prognosis of patients with congenital hypothyroidism (CH) due to DUOX2 mutations.PatientsTwenty-five patients were identified by a neonatal screening program and included seven familial cases. Their serum TSH values ranged from 18.9 to 734.6 mU/l. Twenty-two of the patients had low serum free thyroxine (fT4) levels (0.17–1.1 ng/dl). Twenty-four of the patients were treated with L-thyroxine.MethodsWe analyzed the DUOX2, thyroid peroxidase, Na+/I− symporter, and dual oxidase maturation factor 2 genes of these 25 patients by PCR-amplified direct sequencing. An additional 11 genes were analyzed in 11 of the 25 patients using next-generation sequencing.ResultsAll patients had biallelic DUOX2 mutations, and seven novel alleles were detected. Fourteen of the patients were able to discontinue replacement therapy, and seven were receiving reduced L-thyroxine doses. Normalization of thyroglobulin lagged several years behind the completion of treatment. Two patients showed permanent hypothyroidism. Except for one case of a learning disability, growth and psychomotor development were normal.ConclusionThe prognosis of Japanese patients with DUOX2 defects was usually transient CH. Delayed improvement of thyroglobulin indicates that these patients have subclinical hypothyroidism. Hypothyroidism did not recur in patients during the study period (up to 18 years old).

Autosomal Trisomies: What Neonatal Nurses Need to Know

1999 ◽  
Vol 18 (8) ◽  
pp. 7-15 ◽  
Author(s):  
Ann Cox
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Trisomy 13 ◽  
Neonatal Nurses ◽  
Patau Syndrome ◽  
Edwards Syndrome ◽  
Major Congenital Malformations ◽  
Associated Abnormalities

Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). More detailed description of the manifestations, associated abnormalities, and outcomes of the most common of these, trisomy 21, is provided.

Congenital hypothyroidism in children with down syndrome

2017 ◽  
Author(s):  
Najoua Lassoued ◽  
Salmane Ouannes ◽  
Sobhi Ghanmi ◽  
Hachmi Ben Hammouda ◽  
Hbib Soua ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Congenital Hypothyroidism ◽  
Children With Down Syndrome

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism

2016 ◽  
Vol 29 (7) ◽  
Author(s):  
Kumihiro Matsuo ◽  
Yusuke Tanahashi ◽  
Tokuo Mukai ◽  
Shigeru Suzuki ◽  
Toshihiro Tajima ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Japanese Patients ◽  
Sequence Variants ◽  
Transient Hypothyroidism ◽  
High Prevalence ◽  
Dual Oxidase

AbstractDual oxidase 2 (Forty-eight Japanese DH patients were enroled and analysed for sequence variants ofFourteen sequence variants ofOur results suggest that

Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome

2016 ◽  
Vol 173 ◽  
pp. 165-168 ◽  
Author(s):  
Ira Erlichman ◽  
Francis B. Mimouni ◽  
Matityahu Erlichman ◽  
Michael S. Schimmel
Keyword(s):  
Down Syndrome ◽  
Congenital Hypothyroidism
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